Canonical Allele Identifier: CA1217756784

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715432_196715433delinsAT , CM000663.2:g.196715432_196715433delinsAT	GRCh38
NC_000001.10:g.196684562_196684563delinsAT , CM000663.1:g.196684562_196684563delinsAT	GRCh37
NC_000001.9:g.194951185_194951186delinsAT	NCBI36
NG_007259.1:g.68422_68423delinsAT , LRG_47:g.68422_68423delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.1786-161_1786-160delinsAT
ENST00000695969.1:c.1520-161_1520-160delinsAT	ENSP00000512296.1:n.1520-161_1520-160deli...
ENST00000695970.1:c.1520-161_1520-160delinsAT	ENSP00000512297.1:n.1520-161_1520-160deli...
ENST00000695971.1:c.1499-161_1499-160delinsAT	ENSP00000512298.1:n.1499-161_1499-160deli...
ENST00000695972.1:c.1520-161_1520-160delinsAT	ENSP00000512299.1:n.1520-161_1520-160deli...
ENST00000695973.1:c.1520-161_1520-160delinsAT	ENSP00000512300.1:n.1520-161_1520-160deli...
ENST00000695974.1:c.1520-161_1520-160delinsAT	ENSP00000512301.1:n.1520-161_1520-160deli...
ENST00000695975.1:c.1520-161_1520-160delinsAT	ENSP00000512302.1:n.1520-161_1520-160deli...
ENST00000695976.1:c.1331-161_1331-160delinsAT	ENSP00000512303.1:n.1331-161_1331-160deli...
ENST00000695981.1:c.1520-161_1520-160delinsAT	ENSP00000512306.1:n.1520-161_1520-160deli...
ENST00000695983.1:c.1520-161_1520-160delinsAT	ENSP00000512308.1:n.1520-161_1520-160deli...
ENST00000695984.1:c.245-12914_245-12913delinsAT	ENSP00000512309.1:n.245-12914_245-12913de...
ENST00000695986.1:c.*1171-161_*1171-160delinsAT	ENSP00000512311.1:n.*1171-161_*1171-160de...
ENST00000696024.1:n.1604-161_1604-160delinsAT
ENST00000696025.1:n.1604-161_1604-160delinsAT
ENST00000696026.1:c.1520-161_1520-160delinsAT	ENSP00000512335.1:n.1520-161_1520-160deli...
ENST00000696027.1:c.1520-161_1520-160delinsAT	ENSP00000512336.1:n.1520-161_1520-160deli...
ENST00000696028.1:c.1520-161_1520-160delinsAT	ENSP00000512337.1:n.1520-161_1520-160deli...
ENST00000696029.1:c.1520-161_1520-160delinsAT	ENSP00000512338.1:n.1520-161_1520-160deli...
ENST00000696031.1:c.*1038-161_*1038-160delinsAT	ENSP00000512340.1:n.*1038-161_*1038-160de...
ENST00000696032.1:c.1520-161_1520-160delinsAT	ENSP00000512341.1:n.1520-161_1520-160deli...
ENST00000696033.1:c.1159+25818_1159+25819delinsAT	ENSP00000512342.1:n.1159+25818_1159+25819...
ENST00000367429.9:c.1520-161_1520-160delinsAT MANE Select	ENSP00000356399.4:n.1520-161_1520-160deli...
ENST00000367429.8:c.1520-161_1520-160delinsAT	ENSP00000356399.4:n.1520-161_1520-160deli...
ENST00000466229.5:n.3536-161_3536-160delinsAT
NM_000186.3:c.1520-161_1520-160delinsAT , LRG_47t1:c.1520-161_1520-160delinsAT	NP_000177.2:n.1520-161_1520-160delinsAT
XR_001737134.2:n.1605-161_1605-160delinsAT
NM_000186.4:c.1520-161_1520-160delinsAT MANE Select	NP_000177.2:n.1520-161_1520-160delinsAT